Canine GM2-gangliosidosis (Sandhoff disease) caused by a 3 base pair deletion in the HEXB gene

Wang, Ping; Galban, Evelyn M.; Henthorn, Paula S.; Lin, Gloria H. Y.; Takedai, Teiko; Casal, Margret L.

doi:10.1016/j.ymgme.2016.11.363

Cited by 2 publications

(4 citation statements)

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“…The possibility of a genetic defect should always be considered when atypical leukocyte inclusions are detected in a young animal. In this case, the presence of magenta cytoplasmic inclusions in circulating neutrophils and lymphocytes was highly suggestive of an LSD, specifically MPS or GM2‐gangliosidosis 2,3 . Most LSDs are inherited in an autosomal recessive manner, and parents of affected animals are often unrecognized, unaffected carriers of the responsible mutation.…”

Section: Discussionmentioning

confidence: 83%

“…Most monocytes and eosinophils contained few cytoplasmic vacuoles indistinguishable from vacuoles that can be seen in health. These findings were supportive of a lysosomal storage disease (LSD), more specifically an MPS, including suspected MPS VII, or GM2‐gangliosidosis 2,3 …”

Section: Case Presentationmentioning

confidence: 75%

“…These findings were supportive of a lysosomal storage disease (LSD), more specifically an MPS, including suspected MPS VII, or GM2-gangliosidosis. 2,3 Both parents were phenotypically healthy heterozygous carriers of one of two reported missense mutations (GUSB p.R166H) responsible for β-glucuronidase deficiency, which cause MPS VII characterized by the accumulation of undigested glycosaminoglycans (GAGs) within lysosomes. 4 Molecular analyses 5 were performed at the Laboratory of Comparative Medical Genetics at Michigan State University to confirm which pups were affected.…”

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confidence: 99%

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Blood and bone marrow findings in two pups with mucopolysaccharidosis type VII

Corda

Swenson

Scott

et al. 2021

Veterinary Clinical Pathol

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Blood samples were collected by jugular venipuncture into ethylenediaminetetraacetic acid (EDTA) vacuum tubes from four clinically healthy 11-day-old mixed-breed dogs, littermates from a research colony. The samples were submitted to the clinical pathology laboratory at the Michigan State University Veterinary Diagnostic Laboratory for microscopic evaluation. Blood smears were prepared and stained with a modified Wright-Giemsa stain (EMD Millipore Corporation, Burlington, MA) to assess for mucopolysaccharidosis

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Section: Discussionmentioning

confidence: 83%

Section: Case Presentationmentioning

confidence: 75%

mentioning

confidence: 99%

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Blood and bone marrow findings in two pups with mucopolysaccharidosis type VII

Corda

Swenson

Scott

et al. 2021

Veterinary Clinical Pathol

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“…Many diseases affecting Jacob sheep are of crucial importance to other animals as well, including an unusual form of asymmetric occipital condylar dysplasia [2] and Tay-Sachs disease (TSD), a type of gangliosidosis that also afflicts humans [3,4]. Various gangliosidoses are common in vertebrate species such as dogs [5,6], cats [7,8], swine [9], and humans [10].…”

Section: Introductionmentioning

confidence: 99%

Sequence analysis of the Hex A gene in Jacob sheep from Bulgaria

et al. 2021

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Background and Aim: Jacob sheep are a rare ancient breed of sheep believed to have originated from the Mediterranean area but which are now kept throughout the world. These sheep have recently attracted medical interest due to the observation of a genetic disorder in the breed that can be used as an animal model of Tay–Sachs disease (TSD). This study aims to detect mutations in the Hexosaminidase A gene in Jacob sheep based on sequence analysis of the 284-bp fragment situated between exon 11 and intron 11 of the gene, a target sequence for site-specific mutation. This is the first study that has investigated Jacob sheep in Bulgaria for gene-specific mutations. Materials and Methods: A total of 20 blood samples were collected from Jacob sheep from the Rhodope Mountains. DNA was isolated from these samples, and a specific 284-bp fragment was amplified. The amplified products were purified using a polymerase chain reaction purification kit and sequenced in both directions. Results: Target sequences were successfully amplified from all 20 investigated sheep. Sequence analysis did not show the homozygous, recessive, missense (G-to-C transition) mutation at nucleotide position 1330 (G1330→C) in exon 11, demonstrating that all of these sheep were a normal genotype (wild-type). Conclusion: Jacob sheep are considered a potentially useful animal model in advancing the understanding of pathogenesis and developing potential therapies for orphan diseases, such as those characterized by mutant GM2 gangliosides. The clinical and biochemical features of the Jacob sheep model of TSD represent well the human classical late-infantile form of this disorder, indicating that the model can serve as a possible new research tool for further study of the pathogenesis and treatment of TSD.

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Canine GM2-gangliosidosis (Sandhoff disease) caused by a 3 base pair deletion in the HEXB gene

Cited by 2 publications

References 0 publications

Blood and bone marrow findings in two pups with mucopolysaccharidosis type VII

Blood and bone marrow findings in two pups with mucopolysaccharidosis type VII

Sequence analysis of the Hex A gene in Jacob sheep from Bulgaria

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